ClinVar Miner

Submissions for variant NM_012082.4(ZFPM2):c.292G>A (p.Asp98Asn)

gnomAD frequency: 0.00311  dbSNP: rs202217256
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000231192 SCV000289862 benign 46,XY sex reversal 9 2023-11-27 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003430790 SCV004158336 benign not provided 2023-03-01 criteria provided, single submitter clinical testing ZFPM2: BS1, BS2
PreventionGenetics, part of Exact Sciences RCV003919971 SCV004729446 likely benign ZFPM2-related condition 2019-09-10 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Reproductive Development, Murdoch Childrens Research Institute RCV001007699 SCV001146896 benign 46,XY sex reversal 3 2019-08-26 no assertion criteria provided research

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